GREAT THINGS IN SMALL PACKAGES:
ACHONDROPLASIA IN CHILDREN By Carol Muse Evans
"God doesn’t make mistakes. What a boring world it would be if we were all the same. God knows exactly who to give special children to.."
10 | birminghamparent | march / april 2020
You’ve probably seen “Little Couple,” “Little People, Big World,” or even “7 Little Johnstons” on The Learning Channel. These programs hope to take some of the mystery away from families with “little people,” who may have achondroplasia, much like our cover model Daisy this month, as well as give a glimpse into what life is like for Little People. “Achondroplasia is the most common form of dwarfism, or disproportionate short stature that affects the way bones of the body develop,” says Anna Hurst, MD, medical geneticist at the University of Alabama at Birmingham and Children’s of Alabama. “It is one of many types of skeletal dysplasia, or differences in how the bones and skeletal system form.” While it is not necessarily hereditary, it is a genetic condition that happens when there is a difference in the way a person’s FGFR3 gene is spelled. This gene gives instructions to the body about bone growth, Hurst explains. It can also be inherited from a parent who is affected with the condition, she adds, and it happens to about 1 in every 20,000 people. “If a parent has the condition, there is a 50 percent chance each of their children could have it. About 20 percent of people with achondroplasia have a parent with the condition, and in the other 80 percent it is a new genetic change,” Hurst adds. In Daisy’s case, she has one parent, her mother, with the gene. Bailey, Daisy’s mom, was born with it, “but we had no history of dwarfism in our families,” says Daisy’s grandma and Bailey’s mom Laura Rogers, a registered nurse. “For most families such as ours, it’s what’s called a fresh mutation’ meaning it just happened. “A gene mutation at conception,” Rogers adds. “I say we were blessed.” “Because Bailey married an average sized man, we knew there was a 50/50 chance of it being passed on,” Rogers says. “We found out at about 22 weeks that Daisy had the gene.” Babies with achondroplasia may have some special needs, Hurst says. They may have sleep apnea or narrowing in the back of the skull that pinches where the brain and spinal cord travel. These can be serious….so early monitoring is very important, and some people may need surgery. “They may develop a build-up of fluid in the brain called hydrocephalus. Over time, they can have frequent ear infections and problems with the bones of the
